Mom dx ALS/PLS....need help!

[KellyR30]

Hi everyone My name is Kelly and my sweet mama (78) has been having symptoms since end or 12/18. She was diagnosed yesterday with ALS/PLS. Her symptoms are bulbar, speech, tongue not working properly and a dropped head (neck extensors). She has general weakness. She has no other symptoms, no twitching, no tripping, falling, no symptoms in her arms or legs. It started in her neck. We have seen two neurologists. The first one wasn't great so we requested another one. The first neurologist did a emg/ncs in mid February and it was normal so he diagnosed myopothy.

So far my mom has had a brain MRI, spine MRI, muscle biopsy, 2 emg/ncs, lots of blood work, and a full body cat scan.
Her second emg study was yesterday by the second neurologist. The ncs was completely normal and the emg (needle study) showed muscle damage in her neck and tongue, with her upper back/cervical area also showing abnormalities. He was very weird about the diagnosis. He said it looks like als, and he thinks it is. I asked him what he saw in the test that made him think that and he said that she has 3-4 areas that show damage. He then said that technically to get a diagnosis there needs to be 10 areas. He then went on to say that all of her limbs tested completely normal. It is the brain/ tongue area. He said it is her symptoms are unique but he has no other ideas on what it could be so he feels its ALS.

I asked him about neck extensor myopathy, myasthenia gravis, other causes of muscle disease. He was not very open to suggestions even though he did a trial of mestinon a couple of months back to experiment. He also did a 12 day round of steroids to rule out some inflammatory myopathies.

She has a very long history of statin use (high dose lipitor) and steroids daily for asthma and corticosteroid injections 2-3 times a year for bursitis. Any of these can cause muscle disease. He is a regular neurologist (not an als specialist). He said that her blood tests for myasthenia were negative, but then said 20% of people test negative. I asked him if he could consider MG again but he says he thinks is ALS or maybe PLS instead. He ignored my legitimate concerns about how can you dx when she doesn't have the 10 muscles, just 3-4. He just went on to say her options are a feeding tube and ventilation as the disease progresses and that was it.

Theres more info but I will stop here for now! Anyone make heads or tails of what this dr said,,,,is this normal? My mom said she won't be returning to him as he had zero bedside manner.
Thank you for any advice

 

[KarenNWendyn]

Sorry to hear about your mom. If you could post a copy of her EMG results with identifying information blacked out, that would be helpful to us in offering an opinion.

But we do recommend a second opinion from a neuromuscular disease specialist. At the very least, you need a physician you can talk to.

ALS is diagnosed based on finding a pattern of weakness in at least three spinal regions (bulbar, arms, legs, thoracic are examples of spinal regions) in combination with hyper or pathological reflexes and characteristic EMG abnormalities. EMG findings show evidence of widespread acute and chronic denervation and reinnervation. Diagnosis also requires ruling out conditions that can mimic ALS and finding evidence of disease progression. An experienced neuromuscular disease specialist is needed to put this all together.

 

[KellyR30]

Thank you Karen! I will post when I get a copy of her emg. She didnt have 3 regions with weakness, just the tongue and neck (is that one or two regions?) So what does that mean? Why would he diagnose her then? He was surprised by her emg results that her arms and legs showed nothing.

 

[KarenNWendyn]

Tongue and neck are part of one region (bulbar). I can only guess that her EMG showed evidence of acute and chronic denervation and reinnervation in the bulbar region.

The upper back is in the thoracic segment. You said that was involved? If the upper back also showed suspicious EMG changes, then the evidence is mounting. And if she had brisk reflexes as well, that would be highly suspicious.

He should have given you more answers though. You shouldn’t have to sit there guessing, especially with something as serious as ALS. Are you planning to see a neuromuscular specialist?

 

[Nikki J]

Although El Escorial diagnostic criteria require 3 reason for so called definite ALS 2 regions ( El Escorial probable) or even one ( El Escorial possible) that have an ALS pattern will yield you an ALS diagnosis. In spite of the terms used in 2019 that does not mean there is doubt Possible ALS by El Escorial is NOT maybe ALS. The terms came about when diagnostics for mimics were less sophisticated and were originally intended for research anyway.

People get into clinical trials with so- called possible. And a significant number of PALS die before “ achieving “ El Escorial definite. Dr Bedlack had a great video explaining this but I can’t find it.

A second opinion with neuromuscular is always a good idea but don’t focus on the number of regions

 

[KellyR30]

Thats exactly how we feel, frustrated. We are trying to get a referral for the mayo clinic. My moms insurance is with Kaiser so they dont want to ever refer out of their network. If we can't get the referral to mayo we will go to Cedars Sinai for a 2nd opionion I have never heard the word brisk reflexes. Her back was hard to test, she was very uncomfotbable on the table in a fetal position and he asked her to lift her head which she couldn't do well in that position. She was facing a wall, holding my hand and I dont think shed understood his verbal directions from behind her. In her lower back she didnt take the directions well at first, but once he said push out your butt she did it and had healthy nerves. I wish they would have tested her sitting up so she could have seen the dr and not the wall.

 

[KellyR30]

Although El Escorial diagnostic criteria require 3 reason for so called definite ALS 2 regions ( El Escorial probable) or even one ( El Escorial possible) that have an ALS pattern will yield you an ALS diagnosis. In spite of the terms used in 2019 that does not mean there is doubt Possible ALS by El Escorial is NOT maybe ALS. The terms came about when diagnostics for mimics were less sophisticated and were originally intended for research anyway.

People get into clinical trials with so- called possible. And a significant number of PALS die before “ achieving “ El Escorial definite. Dr Bedlack had a great video explaining this but I can’t find it.

A second opinion with neuromuscular is always a good idea but don’t focus on the number of regions

Any thoughts on myasthenia gravis? He did a 5 day drug trial but if you look it up it takes weeks to show improvement and usually a mix of 3 drugs (immunosuppressive and steroids). My mom has an autoimmunine issue already, and she has two very large rashes on her upper thighs that started the same time as her neck symptoms. Any ideas on why he doesnt want to at least try the medicines for longer?

Do you also know what the 4 out of 10 muscles required for ALS dx is about?

 

[KellyR30]

I posted for you below before I noticed the button to post a reply below your comment

 

[KarenNWendyn]

There are tests for myasthenia gravis, including finding acetylcholine receptor antibodies in most cases.

However, if the EMG findings looked like a motor neuron disease, that would bring ALS up high on the list.

An opinion from a neuromuscular specialist will sort all this out.

 

[KellyR30]

There are tests for myasthenia gravis, including finding acetylcholine receptor antibodies in most cases.

However, if the EMG findings looked like a motor neuron disease, that would bring ALS up high on the list.

An opinion from a neuromuscular specialist will sort all this out.

So MG symptoms are the same as als with bulbar, weakness, but they look different on a emg? He uses the words muscle disease not motor neuron. Sorry, we’re so new to this.

 

[KarenNWendyn]

Yes, the EMG should distinguish ALS from MG.

MG is characterized by fluctuating levels of weakness (see the very last paragraph below). There can be some fluctuation with ALS, but mostly it gets progressively worse.

Also, there is a lot of eyelid and eye muscle weakness with MG, and the eyes are usually not involved with ALS until much later.


Here’s some information on MG:
●The cardinal feature of myasthenia gravis is fluctuating skeletal muscle weakness, often with true muscle fatigue. The fatigue is manifest by worsening contractile force of the muscle.

●There are two clinical forms of myasthenia gravis: ocular and generalized. In ocular myasthenia, the weakness is limited to the eyelids and extraocular muscles. In generalized disease, the weakness may also commonly affect ocular muscles, but it also involves a variable combination of bulbar, limb, and respiratory muscles.

●More than 50 percent of patients present with ocular symptoms of ptosis (droopy eyelids) and/or diplopia (double vision). Of those who present with ocular manifestations, about half will remain purely ocular. About 15 percent of patients present with bulbar symptoms. These include fatigable chewing, dysphagia, and dysarthria. Less than 5 percent present with proximal limb weakness alone.

●Eyelid muscle weakness can lead to ptosis that can vary throughout the day. Extraocular muscle weakness produces binocular diplopia that disappears when the patient closes or occludes one eye.

●Muscles of jaw closure are often involved and produce weakness with prolonged chewing. Oropharyngeal muscle weakness produces dysarthria and dysphagia.

●Facial muscles are frequently involved and make the patient appear expressionless.

●Neck extensor and flexor muscles are commonly affected. The weight of the head may overcome the extensors, producing a "dropped head syndrome." Involvement of the limbs produces predominantly proximal weakness similar to other muscle diseases. Predominantly distal presentations of otherwise typical myasthenia can occur.

●Involvement of the muscles of respiration produces the most serious symptoms in myasthenia gravis, such as respiratory insufficiency and pending respiratory failure, called "myasthenic crisis”.

●Early in the disorder, the symptoms of myasthenia gravis are often transient in many patients, with hours, days, or even weeks free of symptoms. New symptoms often develop weeks or months later. The maximal extent of the disease is seen in 77 percent of patients by three years of onset.

 

[KellyR30]

Yes, the EMG should distinguish ALS from MG.

MG is characterized by fluctuating levels of weakness (see the very last paragraph below). There can be some fluctuation with ALS, but mostly it gets progressively worse.

Also, there is a lot of eyelid and eye muscle weakness with MG, and the eyes are usually not involved with ALS until much later.


Here’s some information on MG:
●The cardinal feature of myasthenia gravis is fluctuating skeletal muscle weakness, often with true muscle fatigue. The fatigue is manifest by worsening contractile force of the muscle.

●There are two clinical forms of myasthenia gravis: ocular and generalized. In ocular myasthenia, the weakness is limited to the eyelids and extraocular muscles. In generalized disease, the weakness may also commonly affect ocular muscles, but it also involves a variable combination of bulbar, limb, and respiratory muscles.

●More than 50 percent of patients present with ocular symptoms of ptosis (droopy eyelids) and/or diplopia (double vision). Of those who present with ocular manifestations, about half will remain purely ocular. About 15 percent of patients present with bulbar symptoms. These include fatigable chewing, dysphagia, and dysarthria. Less than 5 percent present with proximal limb weakness alone.

●Eyelid muscle weakness can lead to ptosis that can vary throughout the day. Extraocular muscle weakness produces binocular diplopia that disappears when the patient closes or occludes one eye.

●Muscles of jaw closure are often involved and produce weakness with prolonged chewing. Oropharyngeal muscle weakness produces dysarthria and dysphagia.

●Facial muscles are frequently involved and make the patient appear expressionless.

●Neck extensor and flexor muscles are commonly affected. The weight of the head may overcome the extensors, producing a "dropped head syndrome." Involvement of the limbs produces predominantly proximal weakness similar to other muscle diseases. Predominantly distal presentations of otherwise typical myasthenia can occur.

●Involvement of the muscles of respiration produces the most serious symptoms in myasthenia gravis, such as respiratory insufficiency and pending respiratory failure, called "myasthenic crisis”.

●Early in the disorder, the symptoms of myasthenia gravis are often transient in many patients, with hours, days, or even weeks free of symptoms. New symptoms often develop weeks or months later. The maximal extent of the disease is seen in 77 percent of patients by three years of onset.

She has a lot of those symptoms. Her eyes have been bothering her for months so much she had to give up gardening. She can't bend over to work in her garden because her eyes start to do bizarre things...like seeing double and feeling very uncomfortable. She avoids bending at all costs to avoid the sensation. Her voice is always better in the morning. Her weakness gets worse with movement. If she is stitting around she's fine. If she gets up to cook dinner she gets exhausted after 10 minutes. She can take a 10 minute walk with her walker but gets exhausted if she goes longer. She plans her days in little bits so she can sit down and rest between things. She has decent and some terrible days. But she is symptomatic every day. I read this article and it made me wonder..... Life-threatening misdiagnosis of bulbar onset myasthenia gravis as a motor neuron disease: How much can one rely on exaggerated deep tendon reflexes

 

[Nikki J]

I think seeing the emg and the clinical note might clarify his thinking for you somewhat. He doesn’t sound like the best communicator. As Karen said if you can post the de identified emg results we might comment.

Others here have been able to get an out of network referral from Kaiser for ALS because they don’t have an ALS specialist/ clinic in network Cedars would be a good place to go

 

[KellyR30]

Im still trying to get a copy of her EMG. Kaiser is so slow. My mom was in the ER for constipation yesterday and when we got home i asked if I could look over her patient portal for some blood tests we were waiting on. The neurologist is still doing tests for mimics to be thorough. I remember my mom saying her thyroid meds have been increased again, for the 3rd time this year. Here is the grap.h I saw. We are waiting for blood tests for Calcium and PTH also to test her parathyroid as the symptoms are the same as her bulbar symptoms. Let me know about the thyroid graph. Her thyroid increase started at the same time as her symptoms in January

 

[KarenNWendyn]

She has had untreated (or undertreated) hypothyroidism over the past year, and it’s getting worse. Hypothyroidism of this degree absolutely can be associated with a myopathy and many of the symptoms you report. The good news is that it’s treatable. My question is why hasn’t she been treated? Someone is ordering this test and getting the results but is not appropriately managing it. Time for them to get on the ball. An internist should be able to manage this. If any of the parathyroid tests come back abnormal, then she should see an endocrinologist.